Variant report

Variant	rs376631316
Chromosome Location	chr11:67249818-67249819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:67249770-67250243	GM12878	blood:	n/a	n/a
2	BATF	chr11:67249729-67250181	GM12878	blood:	n/a	chr11:67250035-67250045
3	POLR2A	chr11:67249779-67251056	GM12878	blood:	n/a	n/a
4	MTA3	chr11:67249673-67252980	GM12878	blood:	n/a	n/a
5	SPI1	chr11:67249678-67250475	GM12878	blood:	n/a	chr11:67250117-67250124 chr11:67250113-67250126 chr11:67250093-67250106 chr11:67250095-67250102
6	JUN	chr11:67249692-67251509	K562	blood:	n/a	chr11:67250034-67250041 chr11:67250033-67250042 chr11:67250034-67250042
7	SPI1	chr11:67249812-67250352	HL-60	blood:	n/a	chr11:67250117-67250124 chr11:67250113-67250126 chr11:67250093-67250106 chr11:67250095-67250102
8	NFIC	chr11:67249664-67251071	GM12878	blood:	n/a	n/a
9	ELF1	chr11:67249742-67251073	GM12878	blood:	n/a	chr11:67250114-67250125 chr11:67250094-67250105
10	ATF2	chr11:67249743-67250222	GM12878	blood:	n/a	n/a
11	RUNX3	chr11:67249690-67251404	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67249805-67250002	GM12878	blood:	n/a	n/a
13	RUNX3	chr11:67249764-67250985	GM12878	blood:	n/a	n/a
14	PML	chr11:67249765-67252954	GM12878	blood:	n/a	n/a
15	ZNF384	chr11:67249762-67250919	GM12878	blood:	n/a	n/a
16	BCLAF1	chr11:67249750-67250369	GM12878	blood:	n/a	chr11:67250033-67250042 chr11:67250034-67250043 chr11:67250242-67250251
17	MAX	chr11:67249793-67251363	A549	lung:	n/a	chr11:67250034-67250043 chr11:67250778-67250788
18	POLR2A	chr11:67249815-67250979	HUVEC	blood vessel:	n/a	n/a
19	SIX5	chr11:67249800-67251089	A549	lung:	n/a	n/a
20	HCFC1	chr11:67249748-67251760	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67119767..67122418-chr11:67248932..67250571,2	MCF-7	breast:
2	chr11:67078757..67080884-chr11:67248865..67250419,2	MCF-7	breast:
3	chr11:67230145..67233819-chr11:67248914..67252066,4	K562	blood:
4	chr11:67158455..67160000-chr11:67249177..67251202,2	MCF-7	breast:
5	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
6	chr11:67222200..67224356-chr11:67249381..67251101,2	MCF-7	breast:
7	chr11:67230622..67232854-chr11:67248914..67251189,3	MCF-7	breast:
8	chr11:67249113..67250802-chr11:67267518..67269287,2	MCF-7	breast:
9	chr11:67231198..67233116-chr11:67249356..67252066,3	K562	blood:
10	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
11	chr11:67205296..67207654-chr11:67248873..67250891,2	MCF-7	breast:
12	chr11:66108355..66110449-chr11:67247650..67250457,2	K562	blood:
13	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:
14	chr11:67201373..67203481-chr11:67248801..67250929,2	MCF-7	breast:
15	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
16	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
17	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
18	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
19	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
20	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
21	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
22	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:

Variant related genes	Relation type
AIP	TF binding region
ENSG00000213402	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
23	nsv825960	chr11:67238644-67250833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
24	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67237200-67250200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67249200-67250200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67249200-67250800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:67249600-67250200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:67249800-67250000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:67249800-67250000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:67249800-67250000	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:67249800-67250000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:67249800-67250000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:67249800-67250000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:67249800-67250000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:67249800-67250000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:67249800-67250000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:67249800-67250000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:67249800-67250000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr11:67249800-67250000	Enhancers	Fetal Stomach	stomach
17	chr11:67249800-67250000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:67249800-67250000	Enhancers	Right Ventricle	heart
19	chr11:67249800-67250000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:67249800-67250000	Flanking Active TSS	Thymus	Thymus
21	chr11:67249800-67250000	Flanking Active TSS	K562	blood
22	chr11:67249800-67250000	Flanking Active TSS	NH-A	brain
23	chr11:67249800-67250200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:67249800-67250200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:67249800-67250200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr11:67249800-67250200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:67249800-67250200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:67249800-67250200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr11:67249800-67250200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr11:67249800-67250200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr11:67249800-67250200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr11:67249800-67250200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr11:67249800-67250200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:67249800-67250200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:67249800-67250200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:67249800-67250200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:67249800-67250200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67249800-67250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:67249800-67250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:67249800-67250200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:67249800-67250200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr11:67249800-67250200	Flanking Active TSS	Liver	Liver
43	chr11:67249800-67250200	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:67249800-67250200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:67249800-67250200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr11:67249800-67250200	Flanking Active TSS	Fetal Thymus	thymus
47	chr11:67249800-67250200	Enhancers	Left Ventricle	heart
48	chr11:67249800-67250200	Enhancers	Lung	lung
49	chr11:67249800-67250200	Enhancers	Pancreas	Pancrea
50	chr11:67249800-67250200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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